Canonical Allele Identifier: CA405426086
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs1599694999

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732773T>G , CM000681.2:g.35732773T>G GRCh38
NC_000019.9:g.36223674T>G , CM000681.1:g.36223674T>G GRCh37
NC_000019.8:g.40915514T>G NCBI36
NG_052906.1:g.19755T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.530T>G
ENST00000673918.2:c.6158T>G ENSP00000501283.1:p.Val2053Gly
ENST00000674114.2:c.3765T>G ENSP00000501039.2:n.3765T>G
ENST00000684977.1:c.1442T>G ENSP00000509384.1:p.Val481Gly
ENST00000689544.1:n.1377T>G
ENST00000691421.1:c.1445T>G ENSP00000508674.1:p.Val482Gly
ENST00000691855.1:c.5766T>G
ENST00000692961.1:c.6224T>G ENSP00000509289.1:p.Val2075Gly
ENST00000693677.1:c.704+444T>G ENSP00000509779.1:n.704+444T>G
ENST00000420124.4:c.6224T>G MANE Select ENSP00000398837.2:p.Val2075Gly
ENST00000673918.1:c.6158T>G ENSP00000501283.1:p.Val2053Gly
ENST00000674114.1:c.3546T>G
ENST00000420124.2:c.6224T>G ENSP00000398837.1:p.Val2075Gly
NM_014727.2:c.6224T>G NP_055542.1:p.Val2075Gly
XM_011527561.1:c.6158T>G XP_011525863.1:p.Val2053Gly
XM_011527562.1:c.6224T>G XP_011525864.1:p.Val2075Gly
XM_011527563.1:c.5948T>G XP_011525865.1:p.Val1983Gly
XM_011527561.2:c.5660T>G XP_011525863.2:p.Val1887Gly
XM_011527562.2:c.6224T>G XP_011525864.1:p.Val2075Gly
XM_017027544.1:c.6224T>G XP_016883033.1:p.Val2075Gly
XM_017027545.1:c.5660T>G XP_016883034.1:p.Val1887Gly
XM_017027546.1:c.3188T>G XP_016883035.1:p.Val1063Gly
NM_014727.3:c.6224T>G MANE Select NP_055542.1:p.Val2075Gly